Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

Research output: Contribution to journalArticle

Abstract

Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3-7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L-serine. A favourable outcome of 3-PGDH deficiency depends on early diagnosis and treatment.

Details

Authors
  • T. J. De Koning
  • M. Duran
  • L. Van Maldergem
  • M. Pineda
  • L. Dorland
  • R. Gooskens
  • J. Jaeken
  • B. T. Poll-The
External organisations
  • University Medical Center Utrecht
  • Academic Medical Center of University of Amsterdam (AMC)
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology
Original languageEnglish
Pages (from-to)119-125
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume25
Issue number2
Publication statusPublished - 2002 Jul 9
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes